ClinVar Miner

Submissions for variant NM_181078.3(IL21R):c.27dup (p.Leu10fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003041893 SCV003317592 pathogenic Cryptosporidiosis-chronic cholangitis-liver disease syndrome 2022-03-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with IL21R-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu10Alafs*47) in the IL21R gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IL21R are known to be pathogenic (PMID: 23440042).

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